부산대학교 도서관

Lam, MT; Coppola, S; Krumbach, OHF; Prencipe, G; Insalaco, A; Cifaldi, C; Brigida, I; Zara, E; Scala, S; Di Cesare, S; Martinelli, S; Di Rocco, M; Pascarella, A; Niceta, M; Pantaleoni, F; Ciolfi, A; Netter, P; Carisey, AF; Diehl, M; Akbarzadeh, M; Conti, F; Merli, P; Pastore, A; Mortera, SL; Camerini, S; Farina, L; Buchholzer, M; Pannone, L; Cao, TN; Coban-Akdemir, ZH; Jhangiani, SN; Muzny, DM; Gibbs, RA; Basso-Ricci, L; Chiriaco, M; Dvorsky, R; Putignani, L; Carsetti, R; Janning, P; Stray-Pedersen, A; Erichsen, HC; Horne, A; Bryceson, YT; Torralba-Raga, L; Ramme, K; Rosti, V; Bracaglia, C; Messia, V; Palma, P; Finocchi, A; Locatelli, F; Chinn, IK; Lupski, JR; Mace, EM; Cancrini, C; Aiuti, A; Ahmadian, MR; Orange, JS; De Benedetti, F; Tartaglia, M

The Journal of experimental medicine. 216(12):2778-2799

Copeland I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Wonkam-Tingang E; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA.; Gupta-Malhotra M; Department of Cardiology, Baylor College of Medicine, San Antonio, Texas, USA.; Hashmi SS; Department of Pediatrics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Han Y; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA.; Jajoo A; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA.; Hall NJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; US Department of Agriculture Agricultural Research Service Children's Nutrition Research Center, Baylor College of Medicine, Houston, Texas, USA.; Hernandez PP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; US Department of Agriculture Agricultural Research Service Children's Nutrition Research Center, Baylor College of Medicine, Houston, Texas, USA.; Lie N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA.; US Department of Agriculture Agricultural Research Service Children's Nutrition Research Center, Baylor College of Medicine, Houston, Texas, USA.; Liu D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Xu J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Rosenfeld J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA.; Haldipur A; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA.; Desire Z; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA.; Coban-Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular Physiology and Biophysics.; Li Q; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA.; Chao HT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Division of Neurology and Developmental Neuroscience, Department of Pediatrics; and.; Department of Neuroscience, Baylor College of Medicine, Houston, Texas, USA.; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital and Baylor College of Medicine, Houston, Texas, USA.; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, Texas, USA.; Zaske AM; Department of Pediatrics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Milewicz DM; Department of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Shete S; The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, Texas, USA.; Hanchard NA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

Boschann F; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Cogulu O; Department of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Balachandran S; Institute of Human Genetics, University of Lübeck, Lübeck, Germany; Institute of Human Genetics, Kiel University, Kiel, Germany.; Vallecillo-Garcia P; Institute of Biochemistry, Freie University Berlin, Berlin, Germany.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Hansmeier NR; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; BIH Center for Regenerative Therapies (BCRT), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.; Coban Akdemir ZH; Department of Epidemiology, Human Genetics and Environmental Science, UTHealth School of Public Health, The University of Texas Houston, TX.; Prada-Medina CA; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Aykut A; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.; Fischer-Zirnsak B; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Badura S; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany.; Durmaz B; Department of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.; Ozkinay F; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.; Hägerling R; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; BIH Center for Regenerative Therapies (BCRT), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Stricker S; Institute of Biochemistry, Freie University Berlin, Berlin, Germany.; Gillessen-Kaesbach G; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.; Spielmann M; Institute of Human Genetics, University of Lübeck, Lübeck, Germany; Institute of Human Genetics, Kiel University, Kiel, Germany.; Horn D; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Brockmann K; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX.; Kornak U; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Schmidt J; Institute of Human Genetics, University of Lübeck, Lübeck, Germany; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE; MEDLINE

Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Borel C; University of Geneva Medical School, 1211 Geneva, Switzerland.; Chen N; Department of Obstetrics and Gynaecology, Beijing 100730, China.; Zhao S; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases and Key Laboratory of Big Data for Spinal Deformities, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Chinese Academy of Medical Sciences, Beijing 100730, China.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Dawood M; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Salvi S; Human Genome Sequencing Center, Baylor College of Medicine (BCM), Houston, TX, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine (BCM), Houston, TX, USA.; Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine (BCM), Houston, TX, USA.; Koch A; University of Tübingen, Department of Obstetrics and Gynecology, Tübingen, Germany.; Rouskas K; Institute for Bioinnovation, Biomedical Sciences Research Center Al. Fleming, Vari, Athens 16672, Greece.; Institute of Applied Biosciences, Centre for Research and Technology Hellas, Thessaloniki, Greece.; Glentis S; Institute for Bioinnovation, Biomedical Sciences Research Center Al. Fleming, Vari, Athens 16672, Greece.; Deligeoroglou E; Center for Adolescent Medicine and UNESCO Chair on Adolescent Health Care, First Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, Athens 11527, Greece.; Bacopoulou F; Center for Adolescent Medicine and UNESCO Chair on Adolescent Health Care, First Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, Athens 11527, Greece.; Wise CA; Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, TX, USA.; McDermott Center for Human Growth and Development, Department of Pediatrics and Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center at Dallas, Dallas, TX, USA.; Dietrich JE; Department of Obstetrics and Gynecology, Houston, TX, USA.; Department of Pediatrics, BCM, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Van den Veyver IB; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Department of Obstetrics and Gynecology, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Dimas AS; Institute for Bioinnovation, Biomedical Sciences Research Center Al. Fleming, Vari, Athens 16672, Greece.; Brucker S; University of Tübingen, Department of Obstetrics and Gynecology, Tübingen, Germany.; Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine (BCM), Houston, TX, USA.; Antonarakis SE; University of Geneva Medical School, 1211 Geneva, Switzerland.; Institute of Genetics and Genomics in Geneva, University of Geneva, 1205 Geneva, Switzerland.; Medigenome, the Swiss Institute of Genomic Medicine, 1207 Geneva, Switzerland.; Wu N; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases and Key Laboratory of Big Data for Spinal Deformities, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Chinese Academy of Medical Sciences, Beijing 100730, China.; Coban-Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Zhu L; Department of Obstetrics and Gynaecology, Beijing 100730, China.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine (BCM), Houston, TX, USA.; Department of Pediatrics, BCM, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

Pan X; Livestrong Cancer Institutes, and Department of Oncology, Dell Medical School, The University of Texas at Austin, Austin, TX 78712, USA.; Coban Akdemir ZH; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.; Gao R; Departments of Chemistry and Biological Sciences, University of Illinois Chicago, Chicago, IL 60607, USA.; Jiang X; School of Biomedical Informatics, University of Texas Health Science Center, Houston, TX 77030, USA.; Sheynkman GM; Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, VA 22903, USA.; Department of Biochemistry and Molecular Genetics, School of Medicine, University of Virginia, Charlottesville, VA 22903, USA.; Center for Public Health Genomics, and UVA Comprehensive Cancer Center, University of Virginia, Charlottesville, VA 22903, USA.; Wu E; Livestrong Cancer Institutes, and Department of Oncology, Dell Medical School, The University of Texas at Austin, Austin, TX 78712, USA.; Neuroscience Institute and Department of Neurosurgery, Baylor Scott & White Health, Temple, TX 76502, USA.; Department of Surgery, Texas A & M University Health Science Center, College of Medicine, Temple, TX 76508, USA.; Department of Pharmaceutical Sciences, Texas A & M University Health Science Center, College of Pharmacy, College Station, TX 77843, USA.; Huang JH; Neuroscience Institute and Department of Neurosurgery, Baylor Scott & White Health, Temple, TX 76502, USA.; Department of Surgery, Texas A & M University Health Science Center, College of Medicine, Temple, TX 76508, USA.; Sahni N; Department of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Houston, TX 77054, USA.; Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Quantitative and Computational Biosciences Program, Baylor College of Medicine, Houston, TX 77030, USA.; Yi SS; Livestrong Cancer Institutes, and Department of Oncology, Dell Medical School, The University of Texas at Austin, Austin, TX 78712, USA.; Oden Institute for Computational Engineering and Sciences (ICES), The University of Texas at Austin, Austin, TX 78712, USA.; Interdisciplinary Life Sciences Graduate Programs (ILSGP), College of Natural Sciences, The University of Texas at Austin, Austin, TX 78712, USA.; Department of Biomedical Engineering, Cockrell School of Engineering, The University of Texas at Austin, Austin, TX 78712, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 100912837 Publication Model: Print Cited Medium: Internet ISSN: 1477-4054 (Electronic) Linking ISSN: 14675463 NLM ISO Abbreviation: Brief Bioinform Subsets: MEDLINE

Pan X; Livestrong Cancer Institutes, Department of Oncology, Dell Medical School, The University of Texas at Austin, Austin, TX 78712, USA.; Yun J; Oden Institute for Computational Engineering and Sciences (ICES), The University of Texas at Austin, Austin, TX 78712, USA.; Coban Akdemir ZH; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.; Jiang X; School of Biomedical Informatics, University of Texas Health Science Center, Houston, TX 77030, USA.; Wu E; Livestrong Cancer Institutes, Department of Oncology, Dell Medical School, The University of Texas at Austin, Austin, TX 78712, USA.; Neuroscience Institute and Department of Neurosurgery, Baylor Scott & White Health, Temple, TX 76502, USA.; Department of Surgery, Texas A & M University Health Science Center, College of Medicine, Temple, TX 76508, USA.; Department of Pharmaceutical Sciences, Texas A & M University Health Science Center, College of Pharmacy, College Station, TX 77843, USA.; Huang JH; Neuroscience Institute and Department of Neurosurgery, Baylor Scott & White Health, Temple, TX 76502, USA.; Department of Surgery, Texas A & M University Health Science Center, College of Medicine, Temple, TX 76508, USA.; Sahni N; Department of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Smithville, TX 78957, USA.; Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Quantitative and Computational Biosciences Program, Baylor College of Medicine, Houston, TX 77030, USA.; Yi SS; Livestrong Cancer Institutes, Department of Oncology, Dell Medical School, The University of Texas at Austin, Austin, TX 78712, USA.; Oden Institute for Computational Engineering and Sciences (ICES), The University of Texas at Austin, Austin, TX 78712, USA.; Interdisciplinary Life Sciences Graduate Programs (ILSGP), College of Natural Sciences, The University of Texas at Austin, Austin, TX 78712, USA.; Department of Biomedical Engineering, Cockrell School of Engineering, The University of Texas at Austin, Austin, TX 78712, USA.

Publisher: Elsevier B.V. on behalf of Research Network of Computational and Structural Biotechnology Country of Publication: Netherlands NLM ID: 101585369 Publication Model: eCollection Cited Medium: Print ISSN: 2001-0370 (Print) Linking ISSN: 20010370 NLM ISO Abbreviation: Comput Struct Biotechnol J Subsets: PubMed not MEDLINE

Li MM; Livestrong Cancer Institutes, Department of Oncology, Dell Medical School, The University of Texas at Austin, Austin, TX, USA.; Awasthi S; Department of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.; Ghosh S; Department of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.; Bisht D; Department of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.; Coban Akdemir ZH; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Sheynkman GM; Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, VA, USA.; Department of Biochemistry and Molecular Genetics, School of Medicine, University of Virginia, Charlottesville, VA, USA.; Center for Public Health Genomics, and UVA Comprehensive Cancer Center, University of Virginia, Charlottesville, VA, USA.; Sahni N; Department of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Houston, TX, USA. nsahni@mdanderson.org.; Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA. nsahni@mdanderson.org.; Quantitative and Computational Biosciences Program, Baylor College of Medicine, Houston, TX, USA. nsahni@mdanderson.org.; Yi SS; Livestrong Cancer Institutes, Department of Oncology, Dell Medical School, The University of Texas at Austin, Austin, TX, USA. stephen.yi@austin.utexas.edu.; Oden Institute for Computational Engineering and Sciences (ICES), The University of Texas at Austin, Austin, TX, USA. stephen.yi@austin.utexas.edu.; Department of Biomedical Engineering, Cockrell School of Engineering, The University of Texas at Austin, Austin, TX, USA. stephen.yi@austin.utexas.edu.; Interdisciplinary Life Sciences Graduate Programs (ILSGP), College of Natural Sciences, The University of Texas at Austin, Austin, TX, USA. stephen.yi@austin.utexas.edu.

Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029 (Electronic) Linking ISSN: 10643745 NLM ISO Abbreviation: Methods Mol Biol Subsets: MEDLINE

Boschann F; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Cogulu MÖ; Department of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Balachandran S; Institute of Human Genetics, University of Lübeck, Lübeck, Germany; Institute of Human Genetics, Kiel University, Kiel, Germany.; Vallecillo-Garcia P; Institute of Biochemistry, Freie University Berlin, Berlin, Germany.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Hansmeier NR; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; BIH Center for Regenerative Therapies (BCRT), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.; Coban Akdemir ZH; Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, The University of Texas, Houston, TX.; Prada-Medina CA; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Aykut A; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.; Fischer-Zirnsak B; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Badura S; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany.; Durmaz B; Department of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.; Ozkinay F; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.; Hägerling R; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; BIH Center for Regenerative Therapies (BCRT), Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Stricker S; Institute of Biochemistry, Freie University Berlin, Berlin, Germany.; Gillessen-Kaesbach G; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.; Spielmann M; Institute of Human Genetics, University of Lübeck, Lübeck, Germany; Institute of Human Genetics, Kiel University, Kiel, Germany.; Horn D; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Brockmann K; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX.; Kornak U; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany. Electronic address: uwe.kornak@med.uni-goettingen.de.; Schmidt J; Institute of Human Genetics, University of Lübeck, Lübeck, Germany; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Baxter SM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA. Electronic address: samantha@broadinstitute.org.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Lake NJ; Department of Genetics, Yale School of Medicine, New Haven, CT; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Sobreira N; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.; Chong JX; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA; Brotman Baty Institute for Precision Medicine, Seattle, WA.; Buyske S; Department of Statistics, Rutgers University, Piscataway, NJ; Department of Genetics, Rutgers University, Piscataway, NJ.; Blue EE; Brotman Baty Institute for Precision Medicine, Seattle, WA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA.; Chadwick LH; Division of Genome Sciences, National Human Genome Research Institute, Bethesda, MD.; Coban-Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX.; Doheny KF; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.; Davis CP; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA.; Lek M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Department of Genetics, Yale School of Medicine, New Haven, CT.; Wellington C; Division of Genome Sciences, National Human Genome Research Institute, Bethesda, MD.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.; Gerstein M; Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.; Lifton RP; Department of Genetics, Yale School of Medicine, New Haven, CT; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY.; MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Matise TC; Department of Genetics, Rutgers University, Piscataway, NJ.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Valle D; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.; Bamshad MJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA; Brotman Baty Institute for Precision Medicine, Seattle, WA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA.; Hamosh A; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.; Mane S; Department of Genetics, Yale School of Medicine, New Haven, CT.; Nickerson DA; Brotman Baty Institute for Precision Medicine, Seattle, WA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA.; Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA. Electronic address: hrehm@broadinstitute.org.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA; Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA. Electronic address: odonnell@broadinstitute.org.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Fasham J; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.; Lin S; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.; Ghosh P; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù (Bambino Gesù Pediatric Hospital), IRCCS, Rome, Italy.; Farrow EG; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO.; Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO.; Kussman J; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO.; Zhou D; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO.; Hemming R; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Zahka K; Pediatric Cardiology, Cleveland Clinic, Cleveland, OH.; Chioza BA; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.; Rawlins LE; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.; Wenger OK; New Leaf Center, Clinic for Special Children, Mount Eaton, OH.; Gunning AC; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.; Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù (Bambino Gesù Pediatric Hospital), IRCCS, Rome, Italy.; Onesimo R; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli (Gemelli University Hospital), IRCCS, Rome, Italy.; Zampino G; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli (Gemelli University Hospital), IRCCS, Rome, Italy.; Barker E; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Osawa N; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Rodriguez MC; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Neuhann TM; MGZ Medical Genetics Centre, Munich, Germany.; Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA.; Keena B; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA.; Capasso J; Golisano Children's Hospital and Flaum Eye Institute, University of Rochester Medical Center, Rochester, NY.; Levin AV; Golisano Children's Hospital and Flaum Eye Institute, University of Rochester Medical Center, Rochester, NY.; Bhoj E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.; Li D; Golisano Children's Hospital and Flaum Eye Institute, University of Rochester Medical Center, Rochester, NY.; Hakonarson H; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.; Wentzensen IM; GeneDx, Gaithersburg, MD.; Jackson A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.; Chandler KE; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.; Coban-Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX.; Sheppard SE; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.; Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù (Bambino Gesù Pediatric Hospital), IRCCS, Rome, Italy. Electronic address: marco.tartaglia@opbg.net.; Triggs-Raine B; Department of Biochemistry and Medical Genetics, Rax Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada. Electronic address: barbara.triggs-raine@umanitoba.ca.; Crosby AH; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom. Electronic address: a.h.crosby@exeter.ac.uk.; Baple EL; Medical Research, Research, Innovation, Learning and Development (RILD) Wellcome Wolfson Centre, College of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom. Electronic address: e.baple@exeter.ac.uk.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE